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Updated: Jun 28, 2026

Induction of Mesenchymal-Epithelial Transitions in Sarcoma Cells
Published on: April 7, 2017
Genetic and molecular alterations in rhabdomyosarcoma: mRNA overexpression of MCL1 and MAP2K4 genes
L Pazzaglia1, A Chiechi, A Conti
1Laboratory of Oncologic Research, Rizzoli Orthopaedic Institute, Bologna, Italy. laura.pazzaglia@ior.it
Abstract:
Rhabdomyosarcoma, the most common soft tissue sarcoma in childhood, belongs to the small round cell tumor family and is classified according to its histopathological features as embryonal, alveolar and pleomorphic. In this study we propose to explore genetic alterations involved in rhabdomyosarcoma tumorigenesis and assess the level of mRNA gene expression of controlling survival signalling pathways. For genetic and molecular analysis, array-based comparative genomic hybridization, combined with Real Time PCR using the comparative method, was performed on 14 primary well-characterized human primary rhabdomyosarcomas. Multiple changes affecting chromosome arms were detected in all cases, including gain or loss of specific regions harbouring cancer progression-associated genes. Evaluation of mRNA levels showed in the majority of cases overexpression of MCL1 and MAP2K4 genes, both involved in cell viability regulation. Our findings on rhabdomyosarcoma samples showed multiple copy number alterations in chromosome regions implicated in malignancy progression and indicated a strong expression of MAP2K4 and MCL1 genes, both involved in different biological functions of complicated signalling pathways.
Insights
This study investigated genetic changes in childhood rhabdomyosarcoma, finding chromosome alterations and overexpression of MCL1 and MAP2K4 genes involved in cell survival signaling pathways.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Rhabdomyosarcoma is a common pediatric soft tissue sarcoma.
- It is classified into embryonal, alveolar, and pleomorphic subtypes based on histology.
- Understanding its genetic basis is crucial for developing targeted therapies.
Purpose of the Study:
- To explore genetic alterations in rhabdomyosarcoma tumorigenesis.
- To assess mRNA gene expression of cell survival signaling pathways.
- To identify potential therapeutic targets in rhabdomyosarcoma.
Main Methods:
- Array-based comparative genomic hybridization (aCGH) was used for genetic analysis.
- Real-Time PCR (RT-PCR) was employed to quantify mRNA gene expression.
- Fourteen primary human rhabdomyosarcoma samples were analyzed.
Main Results:
- All samples exhibited chromosomal copy number alterations, including gains and losses.
- Specific chromosomal regions harboring cancer progression genes were affected.
- Overexpression of MCL1 and MAP2K4 genes, crucial for cell viability, was observed in most cases.
Conclusions:
- Rhabdomyosarcoma development involves multiple genetic alterations.
- MAP2K4 and MCL1 gene overexpression suggests their role in rhabdomyosarcoma pathogenesis.
- These findings highlight potential targets for future rhabdomyosarcoma treatments.
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